title: Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions.
abstract: A 7-year-old mentally retarded girl died following subacute dermatomyositis. Muscle biopsies supported the clinical diagnosis and revealed paracrystalline inclusions on EM. The brain autopsy showed cerebral and cerebellar polymicrogyria. The clinico-pathological findings in this child are related to similar previously reported data in her older sister. The possibility of a new autosomal recessive syndrome involving both fetal brain development and childhood immunological function is discussed.
authors.affiliation: Department of Neurology, University Hospital, Ghent, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: De Bleecker
authors.forename: J
authors.initials: J
authors.lastname: De Reuck
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: D
authors.initials: D
authors.lastname: Carton
authors.forename: J
authors.initials: J
authors.lastname: Leroy
mesh_terms: D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D003882:Dermatomyositis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology; D013577:Syndrome